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Indexed/Abstracted in: CAB, EMBASE, PubMed/MEDLINE, Science Citation Index Expanded (SciSearch), Scopus
Impact Factor 0,532
Online ISSN 1827-1715
PEDIATRIC CHRONIC DISEASES, DISABILITIES AND HUMAN DEVELOPMENT
Benvenuto A., Marciano S., Capuano I., Curatolo P.
Pediatric Neurology Unit, Department of Neuroscience, Tor Vergata University, Rome, Italy
Autism spectrum disorders (ASDs) constitute a class of severe neurodevelopmental conditions caused by atypical brain development beginning during early prenatal or postnatal life. Autistic features begin to be evident in children between 12 and 18 months of age and are considered to be life-long conditions, with core symptoms being permanent across the lifespan. Etiology is multifactorial, involving a strong genetic underpinning. Studies of genetic and environmental epigenetic factors are beginning to provide some clues to clarify the complexities of autism pathogenesis, associated with altered functional and structural connectivity patterns in several brain regions that occur early in life. Genetic syndromes, defined chromosomal abnormalities, and metabolic diseases account for less than 20% of autistic patients and etiologic causes of ASDs remain elusive in more than 80% of cases. Currently, no treatments have been proven to completely reverse the core symptoms but progress in early detection of autistic symptoms in young children has promoted earlier interventions, which should begin soon after the diagnosis is made and be individualized and intensive, for reaching more positive outcomes in terms of cognitive improvement and decrease of symptoms severity. The management of individuals with ASDs requires a multimodal approach of behavioral, medical and pharmacological treatments. Therefore, it is highly important for pediatricians to recognize early signs of ASDs and to know multiple genetic and non genetic disorders that underlie autistic phenotype.